雷迪Score:对一条管道的前性验证,用于同类重组缺陷分析
Aikaterini Tsantikidi1, Konstantinos Papazisis2, Theofanis Floros3
1Genekor Medical S.A., Gerakas, 15344 Athens, Greece.
Oncology letters
|October 9, 2023
概括
卵巢癌中的同源重组缺陷 (HRD) 可以通过基因组不稳定性得分和BRCA1/2分析有效地识别. 这种方法扩大了PARP抑制剂治疗的资格,预测了55%的患者的反应.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 生物标志物发现发现
背景情况:
- 同源重组缺陷 (HRD) 是在瘤中对多PDP-ribose聚合酶1 (PARP) 抑制剂有效性的关键预测因子.
- 检测HRD传统上涉及分析BRCA1/2突变和其他同源重组路径基因.
- 基因组不稳定性 (GI) 测量提供了一种算法方法来评估HRD,可能扩大患者对PARP抑制剂的资格.
研究的目的:
- 评估Oncoscan CNV测定和生物信息算法用于卵巢癌中GI计算的性能.
- 将Oncoscan测定和RediScore算法与经验证的下一代测序 (NGS) 测试 (myChoice HRD) 进行比较.
- 研究GI评分 (GIS) 和BRCA1/2分析对预测PARP抑制剂反应的临床实用性.
主要方法:
- 使用Oncoscan CNV测定和生物信息算法来计算GIS.
- 在一小部分卵巢癌患者中,SNP阵列用于GIS计算.
- 使用Oncoscan平台和Oncomine BRCA研究试验进行了BRCA1/2分析,与经过验证的NGS测试进行比较.
主要成果:
- 雷迪Score算法和OncoscanR管道显示与验证的HRD测试具有很高的一致性 (93.1%).
- 昂科明NGS试验显示100%与BRCA1/2分析的验证试验一致.
- 在26.5%的卵巢癌患者中发现了BRCA1/2突变;GIS在40%的BRCA1/2-阴性病例中呈阳性,确定了55%的所有患者是潜在的PARP抑制剂反应者.
结论:
- 与NGS BRCA1/2分析相结合的RediScore算法是用于卵巢癌中HRD评估的可行方法.
- 这种方法有效地识别了那些可能受益于PARP抑制剂治疗的患者.
- 这项研究强调了有可能增加接受PARP抑制剂治疗的卵巢癌患者数量.
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